Canonical Allele Identifier: CA658822529

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 549689
• ClinVar RCV Id: RCV000664236
• MyVariant Identifiers: chr8:g.75276220_75276602del (hg19) ; chr8:g.74363985_74364367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363985_74364367del , CM000670.2:g.74363985_74364367del	GRCh38
NC_000008.10:g.75276220_75276602del , CM000670.1:g.75276220_75276602del	GRCh37
NC_000008.9:g.75438775_75439157del	NCBI36
NG_008787.2:g.47856_48238del
NG_008787.3:g.47856_48238del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.695_1077del
ENST00000434412.3:c.563_945del
ENST00000520797.6:n.806_1188del
ENST00000521096.6:n.551_933del
ENST00000522568.2:c.*367_*545+204del
ENST00000523640.2:c.165+12664_165+13046del	ENSP00000502017.1:n.165+12664_165+13046de...
ENST00000524195.2:c.280+932_280+1314del	ENSP00000502308.1:n.280+932_280+1314del
ENST00000674612.1:c.368_750del
ENST00000674710.1:c.694+932_694+1314del	ENSP00000502762.1:n.694+932_694+1314del
ENST00000674754.1:c.*2258_*2640del	ENSP00000502063.1:n.*2258_*2640del
ENST00000674756.1:c.*366+932_*366+1314del	ENSP00000501860.1:n.*366+932_*366+1314del...
ENST00000674806.1:c.368_750del
ENST00000674865.1:c.491_873del
ENST00000674926.1:c.*1327_*1709del
ENST00000674934.1:c.*383_*765del
ENST00000674944.1:c.*1298_*1680del	ENSP00000501858.1:n.*1298_*1680del
ENST00000674946.1:c.694+932_694+1314del	ENSP00000501569.1:n.694+932_694+1314del
ENST00000674973.1:c.389_771del
ENST00000675007.1:c.*433_*815del
ENST00000675060.1:c.*360_*742del
ENST00000675165.1:c.695-3_1074del
ENST00000675220.1:c.368_750del
ENST00000675265.1:c.*445_*827del
ENST00000675336.1:c.*181_*563del
ENST00000675376.1:c.368_750del
ENST00000675463.1:c.773_1155del
ENST00000675472.1:c.*181_*563del
ENST00000675474.1:n.280_662del
ENST00000675560.1:c.*366+932_*366+1314del	ENSP00000502118.1:n.*366+932_*366+1314del...
ENST00000675625.1:c.*367_*749del
ENST00000675633.1:c.*102_*484del
ENST00000675661.1:c.*455_*837del
ENST00000675706.1:n.2653_3035del
ENST00000675821.1:c.368_750del
ENST00000675832.1:c.*367_*749del
ENST00000675928.1:c.521_903del
ENST00000675944.1:c.491_873del
ENST00000675999.1:c.694+932_694+1314del	ENSP00000502572.1:n.694+932_694+1314del
ENST00000676049.1:c.*597_*979del
ENST00000676112.1:c.761_1143del
ENST00000676143.1:c.368_750del
ENST00000676207.1:c.694+932_694+1314del	ENSP00000502638.1:n.694+932_694+1314del
ENST00000676377.1:c.368_750del
ENST00000676415.1:c.*1_*383del	ENSP00000502665.1:n.*1_*383del
ENST00000676443.1:c.647_1029del
ENST00000220822.11:c.695_1077del
ENST00000434412.2:c.491_873del
ENST00000522568.1:c.*367_*749del
ENST00000524195.1:n.103+932_103+1314del
NM_001040875.2:c.491_873del
NM_018972.2:c.695_1077del
NR_046346.1:n.629_1011del
XM_011517551.1:c.989_1371del
XM_011517552.1:c.368_750del
NM_001040875.3:c.491_873del
NM_001362929.1:c.368_750del
NM_001362930.1:c.521_903del
NM_001362931.1:c.694+932_694+1314del	NP_001349860.1:n.694+932_694+1314del
NM_001362932.1:c.368_750del
NM_018972.3:c.695_1077del
NM_001362931.2:c.694+932_694+1314del	NP_001349860.1:n.694+932_694+1314del
NM_018972.4:c.695_1077del
NM_001040875.4:c.491_873del
NM_001362929.2:c.368_750del
NM_001362930.2:c.521_903del
NM_001362932.2:c.368_750del